Annotation Summary for Cell Line: ML-1  

Cell line primary name: ML-1
Cell line aliases:
Gender: F
Site Primary: thyroid
Histology: carcinoma
Hist Subtype1: follicular_carcinoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_H10_474614
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_A06_490518
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ML-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 ML1_THYROID 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 ML1_THYROID 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 ML1_THYROID 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 ML1_THYROID 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ARHGEF12 p.T1293K 11 120350780 120350780 ML1_THYROID 37 Missense_Mutation SNP C A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ASPH 8 62602285 62602285 ML1_THYROID 37 Intron SNP T A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
BTG1 12 92537706 92537707 ML1_THYROID 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CDK11B 1 1654066 1654068 ML1_THYROID 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK18 1 205495890 205495891 ML1_THYROID 37 Intron Del CT - uc001hcr.2 CDK18_uc010pri.... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 ML1_THYROID 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 ML1_THYROID 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 ML1_THYROID 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 ML1_THYROID 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DDR2 1 162750211 162750211 ML1_THYROID 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DFNA5 7 24783982 24783982 ML1_THYROID 37 Intron Del C - uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap...
DVL1 p.A290A 1 1275457 1275457 ML1_THYROID 37 Silent SNP G A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
ECM1 p.P47P 1 150482156 150482156 ML1_THYROID 37 Silent SNP C G uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 ML1_THYROID 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EP300 22 41574970 41574972 ML1_THYROID 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 ML1_THYROID 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC4 16 14026194 14026194 ML1_THYROID 37 Intron SNP A G uc002dce.2 ERCC4_uc010bva.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 ML1_THYROID 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123353439 123353439 ML1_THYROID 37 5'UTR SNP G A uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FLI1 11 128638217 128638217 ML1_THYROID 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 ML1_THYROID 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 ML1_THYROID 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.S482F X 135427310 135427310 ML1_THYROID 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 ML1_THYROID 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 ML1_THYROID 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 ML1_THYROID 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 p.81_82insS 6 114292109 114292110 ML1_THYROID 37 In_Frame_Ins Ins - CTG uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HIF1A 14 62213929 62213930 ML1_THYROID 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK4 p.A110T 19 40895482 40895482 ML1_THYROID 37 Missense_Mutation SNP C T rs117781790 uc002onp.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 ML1_THYROID 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 ML1_THYROID 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 ML1_THYROID 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUN 1 59247737 59247737 ML1_THYROID 37 3'UTR SNP C T uc001cze.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 ML1_THYROID 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIFR p.N1096K 5 38481703 38481703 ML1_THYROID 37 Missense_Mutation SNP G T rs3729751 uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 ML1_THYROID 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 ML1_THYROID 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 ML1_THYROID 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K8 p.Q399H 10 30748354 30748354 ML1_THYROID 37 Missense_Mutation SNP G C uc001ivi.1 MAP3K8_uc009xlf... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 ML1_THYROID 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 ML1_THYROID 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3B 2 171509708 171509708 ML1_THYROID 37 3'UTR SNP G A uc002ufy.2 MYO3B_uc002ufz.... Hybrid_Cap... view
NACA p.N2071S 12 57106580 57106580 ML1_THYROID 37 Missense_Mutation SNP T C uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 ML1_THYROID 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ML1_THYROID 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 ML1_THYROID 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 ML1_THYROID 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.E196_splice 17 29497016 29497016 ML1_THYROID 37 Splice_Site_SNP SNP G T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NPR1 1 153665919 153665920 ML1_THYROID 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 ML1_THYROID 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 ML1_THYROID 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFRA 4 55131002 55131002 ML1_THYROID 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 ML1_THYROID 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 ML1_THYROID 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G p.E643* 12 18534746 18534746 ML1_THYROID 37 Nonsense_Mutation SNP G T uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PRKAR1A p.S254fs 17 66524034 66524038 ML1_THYROID 37 Frame_Shift_Del Del TATTT - uc002jhg.2 PRKAR1A_uc002jh... Hybrid_Cap...
PRKCA 17 64298959 64298960 ML1_THYROID 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 ML1_THYROID 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 ML1_THYROID 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PSIP1 p.G279fs 9 15474026 15474030 ML1_THYROID 37 Frame_Shift_Del Del TCTCC - uc003zlv.3 PSIP1_uc003zlw.... Hybrid_Cap...
RASGRF1 p.K21R 15 79382779 79382779 ML1_THYROID 37 Missense_Mutation SNP T C uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RASGRF2 p.V289I 5 80369249 80369249 ML1_THYROID 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RBPJ 4 26431822 26431822 ML1_THYROID 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 ML1_THYROID 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPN1 p.H238Y 3 128350922 128350922 ML1_THYROID 37 Missense_Mutation SNP G A uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 ML1_THYROID 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 ML1_THYROID 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SGK196 p.R86H 8 42958948 42958948 ML1_THYROID 37 Missense_Mutation SNP G A uc003xpw.2 Hybrid_Cap... view
SORL1 p.Q2007R 11 121491903 121491903 ML1_THYROID 37 Missense_Mutation SNP A G uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SPTAN1 p.D2466N 9 131395575 131395575 ML1_THYROID 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
TLK1 2 171850178 171850179 ML1_THYROID 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNN p.G1230D 1 175113616 175113616 ML1_THYROID 37 Missense_Mutation SNP G A uc001gkl.1 Hybrid_Cap... view
TP63 p.R7Q 3 189349324 189349324 ML1_THYROID 37 Missense_Mutation SNP G A uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TTN p.G4085D 2 179598034 179598034 ML1_THYROID 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C 15 54919345 54919348 ML1_THYROID 37 3'UTR Del TTGT - uc002ack.2 UNC13C_uc002acm... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 ML1_THYROID 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...